H70D (p.His70Asp) variant of IKBKB (O14920)
H70D (p.His70Asp) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H70D (p.His70Asp) variant details
- p.His70Asp
- gnomAD 8-42272296-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 8.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available